D. Ruddy

发表

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2009, Science.

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

J. R. Wilson, David M. Holden, P. W. Foster, 2016, British Journal of Cancer.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

P. Brennan, D. Halliday, R. Sandford, 2022, British Journal of Cancer.

Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY

Alexander Münchau, Caroline Hallam, Andrea Ciarmiello, 2011, PLoS currents.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

S. Mohammed, V. Biancalana, D. Ruddy, 2010, American journal of medical genetics. Part A.

Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease

D. Halliday, R. Sandford, D. Ruddy, 2021, Genes.

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

R. Trembath, W. Wuyts, M. Zenker, 2009, American journal of medical genetics. Part A.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?

C. Turnbull, D. Ruddy, A. Barnicoat, 2009, Clinical dysmorphology.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American journal of human genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

F. Baas, D. Troost, A. Al-Chalabi, 2006, Brain : a journal of neurology.

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

C. Lewis, F. Baas, J. Powell, 2003, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease.

L. Seeberger, L. Raymond, R. Barker, 2013, JAMA neurology.

P Stress Imaging omparison of Treadmill Exercise ersus Dipyridamole Stress With yocardial Perfusion Imaging Using ubidium-82 Positron Emission Tomography

D. Ruddy, R. Beanlands, K. Ananthasubramaniam, 2005 .

UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome

C. Lewis, F. Baas, J. Powell, 2017 .

NMDA receptor gene variations as modifiers in Huntington disease: a replication study

J. Schiefer, R. Barker, R. Reilmann, 2011, PLoS currents.

Chloride channels in myotonia congenita assessed by velocity recovery cycles

R. Howard, W. Z'Graggen, M. Hanna, 2014, Muscle & nerve.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American Journal of Human Genetics.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, B. Tüysüz, H. Kayserili, 2015, Human mutation.